ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) (rs150399299)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175110 SCV000226540 benign not specified 2015-03-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514864 SCV000609762 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625094 SCV000743767 benign Bardet-Biedl syndrome 1 2015-08-18 criteria provided, single submitter clinical testing
Invitae RCV001084942 SCV001002685 likely benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625094 SCV000745831 likely benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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